Conditions / Syndrome
hypoplastic or aplastic tibia with polydactyly
info · Syndrome
A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Signs and symptoms
- Preaxial polydactyly
- Triphalangeal thumb
- Absent tibia
- Short tibia
- Fibular duplication
Also known as: Werner mesomelic syndrome; absence of tibia with polydactyly; absent tibia-polydactyly syndrome; hypoplastic tibiae-postaxial polydactyly syndrome; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome